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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dys..:

Schmidts, M ; Hou, Y ; Cortés, CR...
https://openaccess.sgul.ac.uk/id/eprint/112984/1/TCTEX1D2%20mutations%20underlie%20Jeune%20asphyxiating%20thoracic%20dystrophy%20with%20impaired%20retrograde%20intraflagellar%20transport.pdf.  , 2015